SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS775841187 VPS13C Health Risk Pathogenic —
RS775842917 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS775843286 POLE Health Risk Conflicting classifications of pathogenicity Ovarian serous cystadenocarcinoma, Hereditary cancer-predisposing syndrome
RS775843321 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS775843885 GALK1 Health Risk Pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS775844150 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS775844553 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Inborn genetic diseases
RS775845081 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS775845281 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS775845436 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS775846754 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS775846884 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS775847695 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS775848365 KCNJ10 Health Risk Conflicting classifications of pathogenicity EAST syndrome, EAST syndrome
RS775848374 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS775848753 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS775849720 NEK1 Health Risk Likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS775851709 LAMC3 Health Risk Likely pathogenic Occipital pachygyria and polymicrogyria, Occipital pachygyria and polymicrogyria
RS775852045 MRPS22 Health Risk Pathogenic Hypotonia with lactic acidemia and hyperammonemia, Hypotonia with lactic acidemia and hyperammonemia
RS775852765 COL7A1 Health Risk Conflicting classifications of pathogenicity 7 conditions, 7 conditions
RS775852855 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775853003 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS775853778 ABCC6 Health Risk Pathogenic/Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Pseudoxanthoma elasticum
RS775854094 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS775854541 ZFPM2 Health Risk Conflicting classifications of pathogenicity 46, XY sex reversal 9
RS775856400 ALG12 Health Risk Likely pathogenic ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS775858141 SYN1 Health Risk Conflicting classifications of pathogenicity Epilepsy, X-linked 1
RS775858617 POLR2A Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
RS775859905 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS775862147 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS775862197 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS775862454 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS775863038 DUOX2 Health Risk Pathogenic —
RS775863165 HPCA Health Risk Pathogenic Torsion dystonia 2, Torsion dystonia 2
RS775863207 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Inborn genetic diseases
RS775863622 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS775864125 TSEN54 Health Risk Conflicting classifications of pathogenicity —
RS775865076 OBSL1 Health Risk Pathogenic 3M syndrome 2, 3M syndrome 2
RS775865217 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS775865903 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS775866092 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS775866494 TNFSF11 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 2, Autosomal recessive osteopetrosis 2
RS775867835 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS775868003 DCDC2 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 66, Autosomal recessive nonsyndromic hearing loss 66
RS775868066 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS775868164 TTC21B Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Nephronophthisis
RS775868908 SCN9A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS775869095 HOXC13 Health Risk Pathogenic —
RS775869160 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS775869554 TMPRSS6 Health Risk Pathogenic Microcytic anemia, Microcytic anemia
RS775869914 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS775870239 RP9 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS775871024 DGUOK Health Risk Conflicting classifications of pathogenicity —
RS775871086 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS775872602 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
RS775873383 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS77587352 NOBOX Health Risk Conflicting classifications of pathogenicity Premature ovarian failure 5, Premature ovarian failure 5
RS775873824 CHRND Health Risk Pathogenic Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS775874166 SKIC3 Health Risk Likely pathogenic Trichohepatoenteric syndrome, Trichohepatoenteric syndrome
RS775875875 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS775876705 ZFHX3 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS775877814 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS775881095 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Inborn genetic diseases
RS775881847 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS775882448 SUN1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
RS775882768 CACNA1D Health Risk Conflicting classifications of pathogenicity —
RS775883520 TMEM67 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS775883752 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, AP5Z1-related disorder
RS775883776 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS775884756 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS775885648 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS775886011 AEBP1 Health Risk Pathogenic/Likely pathogenic —
RS775887058 CNGB1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 45
RS775888715 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS775889693 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS775890004 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS775890030 ASPH Health Risk Pathogenic —
RS775892620 KIDINS220 Health Risk Conflicting classifications of pathogenicity Ventriculomegaly and arthrogryposis, KIDINS220-related disorder
RS775893052 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS775893405 ADGRV1 Health Risk Likely pathogenic ADGRV1-related disorder, ADGRV1-related disorder
RS775893674 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young type 3
RS775893755 EFTUD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775895683 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Asphyxiating thoracic dystrophy 3
RS775895925 TNNT2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 2
RS775898119 CDK13 Health Risk Conflicting classifications of pathogenicity Congenital heart defects, dysmorphic facial features
RS775898191 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS775899244 AP4E1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS775899433 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS775899653 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS775900681 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS775900929 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS775901148 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS775901839 CNTNAP1 Health Risk Conflicting classifications of pathogenicity —
RS775902505 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS775903241 BBS4 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, BBS4-related disorder
RS775903553 NIPAL4 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6
RS775903570 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS775903641 ABCA3 Health Risk Pathogenic Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS775904104 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS775904482 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
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